E14Q (p.Glu14Gln) variant of CSRP3 (P50461)
E14Q (p.Glu14Gln) in CSRP3 (P50461) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
E14Q (p.Glu14Gln) variant details
- p.Glu14Gln
- rs777883490
- ClinGen CA5916683
- ClinVar RCV000653692
- ClinVar RCV002325314
- Uncertain significance
- Cardiovascular phenotype; Hypertrophic cardiomyopathy 12; Dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.32
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Uncertain significance (Cardiovascular phenotype; Hypertrophic cardiomyopathy 12; Dilate)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14). (PMID 21267010)